Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene

S Alfawaz, F Fong, V Plagnol, FSL Wong, J Fearne… - Archives of oral …, 2013 - Elsevier
… with mutations or variants that underlie a number of syndromic and non-syndromic forms of
oligodontia including MSX1, … the causal mutations in a consanguineous Pakistan family with …

A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia

SW Wong, HC Liu, D Han, HG Chang, HS Zhao… - …, 2014 - academic.oup.com
… agenesis are missense or nonsense mutations. … Therefore, we conclude that this non-stop
mutation in MSX1 causes autosomal dominant non-syndromic oligodontia in our study family. …

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis

S AlFawaz, V Plagnol, FSL Wong, DP Kelsell - Archives of oral biology, 2015 - Elsevier
… incisor, canines, and L first premolars Autosomal recessive 22 … segregating in a
consanguineous Pakistani family in a recessive … (oligodontia), there are two reported missense

[HTML][HTML] Two novel mutations in MSX1 causing oligodontia

L Yang, J Liang, H Yue, Z Bian - PLoS One, 2020 - journals.plos.org
… non-syndromic tooth agenesis and their families were enrolled in … , in autosomal dominant
[9], autosomal recessive [10] or X-… 7 MSX1 missense mutations from all missense/nonsense

Orodental malformations associated with human MSX1 sequence variants

YL Wang, KY Chu, TF Hsieh, CCJ Yao, CH Lin… - … of the American Dental …, 2024 - Elsevier
… lack of teeth, hypodontia and oligodontia are respectively … -phenotype correlations in
MSX1-associated tooth agenesis. A… findings might be associated with the underlying alveolar …

[HTML][HTML] The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family

SA Khan, S Khan, N Muhammad, ZU Rehman… - Frontiers in …, 2022 - frontiersin.org
… (<six missing teeth), oligodontia (>six missing teeth), and … agenesis and to identify an
underlying genetic cause. We present a … A panel of genes, including MSX1, PAX9, AXIN2, FGFR1, …

[HTML][HTML] Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies

D Ceyhan, Z Kirzioglu, NS Calapoglu - Indian journal of dentistry, 2014 - ncbi.nlm.nih.gov
… as a missense mutation, has not been reported in literature. … aiming to determine gene
mutations underlying missing teeth. … anomalies and autosomal recessive form of oligodontia and …

[HTML][HTML] MSX1 gene in the etiology orofacial deformities

A Paradowska-Stolarz - Advances in Hygiene and Experimental Medicine, 2015 - phmd.pl
associated with MSX1 mutation and may vary much (from multiple tooth agenesis to oligodontia
In families where SOX9 mutation is the cause of Pierre Robin syndrome, the sequence is …

[HTML][HTML] Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families

YD Mu, Z Xu, CI Contreras, JS McDaniel… - Genetics and …, 2013 - ncbi.nlm.nih.gov
… Two Mexican families with oligodontia were enrolled in this study to sequence the AXIN2,
MSX1, and PAX9 … , including three synonymous SNPs and three missense mutations. The …

Genetic bases related to the development of non-syndromic dental agenesis: A literature review

ID da Silva, CCSP Luiz, AB Bachesk… - Research, Society and …, 2020 - rsdjournal.org
… sites in members of family 10A (WNT10A), MSX1 and PAX9 … causes of dental agenesis,
where MSX1 missense mutations can … MSX1 in oligodontia inhibits odontogenesis of dental pulp …